T36I (p.Thr36Ile) variant of AGTRAP (Q6RW13)
T36I (p.Thr36Ile) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- ExAC rs766005493
- TOPMed rs766005493
- gnomAD rs766005493
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.71
- MetaLR 0.24
- MetaSVM -0.56
- CADD 23.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available